Author details

Full Name

Robert K Semple

Affiliation

ORCID

Career Start Year

2004

Papers

168

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36722855	A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion.		2023
37562398	Diagnosis and treatment of anti-insulin antibody-mediated labile glycaemia in insulin-treated diabetes.		2023
37205502	Systematic review of genotype-stratified treatment for monogenic insulin resistance.		2023
36675156	p53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell Calcification.		2023
37537371	The serotonin transporter sustains human brown adipose tissue thermogenesis.		2023
34875679	Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.	Journal of Clinical Endocrinology and Metabolism	2022
35961312	Insulin Resistance and Adrenal Androgen Synthesis Viewed Through a Monogenic Lens.	Journal of Clinical Endocrinology and Metabolism	2022
35618782	Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes.	Diabetologia	2022
35780059	Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.	Journal of Clinical Lipidology	2022
34240408	A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.	Clin Genet	2022
35272946	PIK3CA-related overgrowth: silver bullets from the cancer arsenal?	Trends in Molecular Medicine	2022
35234134	Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.	Eur J Endocrinol	2022
35247890	Genome-Protective Topoisomerase 2a-Dependent G2 Arrest Requires p53 in hTERT-Positive Cancer Cells.	Cancer Research	2022
34535985	Genome-Wide Association Study of NAFLD Using Electronic Health Records.	Hepatology Communications	2022
34762647	Positive correlation between transcriptomic stemness and PI3K/AKT/mTOR signaling scores in breast cancer, and a counterintuitive relationship with PIK3CA genotype.	PLoS Genet	2021
33639990	Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.	Orphanet Journal of Rare Diseases	2021
33901270	Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues in Primary Severe Insulin Resistance.	J Clin Endocrinol Metab	2021
34051096	Increased C-Peptide Immunoreactivity in Insulin Autoimmune Syndrome (Hirata Disease) Due to High Molecular Weight Proinsulin.	Clinical Chemistry	2021
33514588	NODAL/TGFÎ² signalling mediates the self-sustained stemness induced by PIK3CAH1047R homozygosity in pluripotent stem cells.	Dis Model Mech	2021
33833411	Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.	Genetics in Medicine	2021
34040190	Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.	Genet Med	2021
34257424	Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.	Genetics in Medicine	2021
34385668	Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.	Genet Med	2021
34841432	Insulin at 100â¿¿years - is rebalancing its action key to fighting obesity-related disease?	DMM Disease Models and Mechanisms	2021
32508313	ENDOCRINOLOGY IN THE TIME OF COVID-19: Remodelling diabetes services and emerging innovation.	European Journal of Endocrinology	2020
32367056	Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes.	Sci Rep	2020
32302976	Endocrinology in the time of COVID-19.	European Journal of Endocrinology	2020
32439336	Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure.	Mol Metab	2020
33040071	Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion.	Hormone Research in Paediatrics	2020
32816962	Anti-Insulin Receptor Antibodies Improve Hyperglycemia in a Mouse Model of Human Insulin Receptoropathy.		2020
32755965	Type B insulin resistance syndrome associated with connective tissue disease and psoriasis.	Endocrinology, Diabetes and Metabolism Case Reports	2020
30948643	Oncogenic promotes cellular stemness in an allele dose-dependent manner.	Proceedings of the National Academy of Sciences of the United States of America	2019
31620085	Editorial: Transcriptional Regulation of Glucose Metabolism: Gaps and Controversies.	Frontiers in Endocrinology	2019
30270358	Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.	Genet Med	2019
30590722	A genome-wide RNAi screen identifies the SMC5/6 complex as a non-redundant regulator of a Topo2a-dependent G2 arrest.	Nucleic Acids Research	2019
29411486	Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation.	Pediatric Diabetes	2018
30503519	DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.	Am J Hum Genet	2018
30201849	Combined Immunosuppressive Therapy Induces Remission in Patients With Severe Type B Insulin Resistance: A Prospective Cohort Study.	Diabetes Care	2018
30197175	Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.	Trends in Molecular Medicine	2018
30382944	Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.	J Clin Invest	2018
29994870	A case of diencephalic syndrome presenting with isolated lipodystrophy.	Clin Dysmorphol	2018
30085133	Assessment and Management of Anti-Insulin Autoantibodies in Varying Presentations of Insulin Autoimmune Syndrome.	Journal of Clinical Endocrinology and Metabolism	2018
29941899	Lessons for cancer drug treatment from tackling a non-cancerous overgrowth syndrome.	Nature	2018
29622583	A Pharmacogenetic Approach to the Treatment of Patients With <i>PPARG</i> Mutations.	Diabetes	2018
29522842	A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway.	Journal of Allergy and Clinical Immunology	2018
29700562	Evaluation of anti-insulin receptor antibodies as potential novel therapies for human insulin receptoropathy using cell culture models.	Diabetologia	2018
29466620	Secretome Analysis of Hypoxia-Induced 3T3-L1 Adipocytes Uncovers Novel Proteins Potentially Involved in Obesity.	Proteomics	2018
29461977	Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.	J Clin Invest	2018
27588366	Diagnosis of insulin autoimmune syndrome using polyethylene glycol precipitation and gel filtration chromatography with ex vivo insulin exchange.	Clinical Endocrinology	2017
28432734	Monogenic diabetes syndromes: Locus-specific databases for AlstrÃ¶m, Wolfram, and Thiamine-responsive megaloblastic anemia.	Hum Mutat	2017